T25T (p.Thr25Thr) variant of PSEN1 (Presenilin-1)
T25T (p.Thr25Thr) in PSEN1 (Presenilin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T25T (p.Thr25Thr) variant details
- p.Thr25Thr
- rs756576165
- gnomAD 14-73148094-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.485
- CADD 11.70
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available